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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for GABRE |
 Gene summary |
| Gene information | Gene symbol | GABRE | Gene ID | 2564 |
| Gene name | gamma-aminobutyric acid type A receptor epsilon subunit | |
| Synonyms | - | |
| Cytomap | Xq28 | |
| Type of gene | protein-coding | |
| Description | gamma-aminobutyric acid receptor subunit epsilonGABA(A) receptor subunit epsilonGABA(A) receptor, epsilongamma-aminobutyric acid (GABA) A receptor, epsilon | |
| Modification date | 20180523 | |
| UniProtAcc | P78334 | |
| Context | PubMed: GABRE [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| GABRE | GO:2001226 | negative regulation of chloride transport | 9039914 |
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Exon skipping events across known transcript of Ensembl for GABRE from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for GABRE |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for GABRE |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_517082 | X | 151123524:151123556:151123839:151124039:151124179:151124307 | 151123839:151124039 | ENSG00000102287.12 | ENST00000483564.1,ENST00000486255.1,ENST00000370328.3 |
| exon_skip_517109 | X | 151125754:151125958:151127435:151127621:151128310:151128448 | 151127435:151127621 | ENSG00000102287.12 | ENST00000441219.1,ENST00000393914.3 |
| exon_skip_517115 | X | 151128310:151128448:151129754:151129837:151130894:151130984 | 151129754:151129837 | ENSG00000102287.12 | ENST00000370325.1,ENST00000370328.3 |
| exon_skip_517119 | X | 151138656:151138874:151139611:151139789:151143041:151143136 | 151139611:151139789 | ENSG00000102287.12 | ENST00000417300.1,ENST00000441219.1,ENST00000393914.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GABRE |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_517082 | X | 151123524:151123556:151123839:151124039:151124179:151124307 | 151123839:151124039 | ENSG00000102287.12 | ENST00000370328.3,ENST00000483564.1,ENST00000486255.1 |
| exon_skip_517109 | X | 151125754:151125958:151127435:151127621:151128310:151128448 | 151127435:151127621 | ENSG00000102287.12 | ENST00000441219.1,ENST00000393914.3 |
| exon_skip_517115 | X | 151128310:151128448:151129754:151129837:151130894:151130984 | 151129754:151129837 | ENSG00000102287.12 | ENST00000370328.3,ENST00000370325.1 |
| exon_skip_517119 | X | 151138656:151138874:151139611:151139789:151143041:151143136 | 151139611:151139789 | ENSG00000102287.12 | ENST00000441219.1,ENST00000393914.3,ENST00000417300.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for GABRE |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000370328 | 151123839 | 151124039 | Frame-shift |
| ENST00000370328 | 151129754 | 151129837 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000370328 | 151123839 | 151124039 | Frame-shift |
| ENST00000370328 | 151129754 | 151129837 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for GABRE |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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SNVs in the skipped exons for GABRE |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
GABRE_LUSC_exon_skip_517082_psi_boxplot.png |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LUSC | TCGA-63-5128-01 | exon_skip_517082 | 151123840 | 151124039 | 151123842 | 151123843 | Frame_Shift_Ins | - | C | p.R378fs |
| GBM | TCGA-06-0145-01 | exon_skip_517115 | 151129755 | 151129837 | 151129839 | 151129839 | Splice_Site | T | A | p.R188_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-63-5128-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_517082 | |
| Skipped exon start: 151123840 | |
| Skipped exon end: 151124039 | |
| Mutation start: 151123842 | |
| Mutation end: 151123843 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.R378fs | |
exon_skip_286371_LUSC_TCGA-63-5128-01.png | |
exon_skip_517082_LUSC_TCGA-63-5128-01.png | |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| HS742T_FIBROBLAST | 151123840 | 151124039 | 151123994 | 151123994 | Missense_Mutation | C | T | p.R328H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GABRE |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GABRE |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GABRE |
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RelatedDrugs for GABRE |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P78334 | DB00842 | Oxazepam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved | |
| P78334 | DB00898 | Ethanol | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved | |
| P78334 | DB01587 | Ketazolam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved | |
| P78334 | DB01595 | Nitrazepam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved | |
| P78334 | DB01215 | Estazolam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved|illicit | |
| P78334 | DB01559 | Clotiazepam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved|illicit | |
| P78334 | DB01588 | Prazepam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved|illicit | |
| P78334 | DB01589 | Quazepam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved|illicit | |
| P78334 | DB00690 | Flurazepam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved|illicit|investigational | |
| P78334 | DB01558 | Bromazepam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved|illicit|investigational | |
| P78334 | DB00829 | Diazepam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved|illicit|investigational|vet_approved | |
| P78334 | DB00801 | Halazepam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved|illicit|withdrawn | |
| P78334 | DB00231 | Temazepam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved|investigational | |
| P78334 | DB00897 | Triazolam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved|investigational |
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RelatedDiseases for GABRE |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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